Author

Dinakantha S Kumararatne

Cambridge University Hospitals NHS Foundation TrustORCID 0000-0001-8438-4686Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aarnoud P. HuissooniD· 1 shared Abigail Furnell· 1 shared Adam J. MeadiD· 1 shared Adam P. LevineiD· 1 shared Adnan Yousaf Manzur· 1 shared Adrian James ThrasheriD· 1 shared Alain FischeriD· 1 shared Alain Lefèvre‐UtileiD· 1 shared

Activity by Year

2018-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperBioinformatics

Aarnoud P. HuissoonORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsProceedings of the National Academy of SciencesPeer-reviewedAug 2, 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch…·Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

44 citations

𝕏 PostBluesky

BioinformaticsScientific ReportsPeer-reviewedJan 16, 2018

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases…·Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

88 citationstop 2%

whole-genome sequencingstatistical model

𝕏 PostBluesky